First trimester screening: information & specialists

Leading Medicine Guide Editors
Author
Leading Medicine Guide Editors

First trimester screening is an examination method in early pregnancy. It is used to assess risk factors and possible diseases. Specialists in prenatal diagnostics advise parents-to-be on the preparation, implementation and possible results of first trimester screening.

Here you will find further information and selected specialists for first trimester screening.

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Article overview

First trimester screening is an examination of the mother and unborn child at an early stage of pregnancy. The doctor assesses various factors to determine the risk of

  • malformations,
  • chromosomal changes and
  • pregnancy-induced high blood pressure disorders, such as pre-eclampsia,

can be determined.

First trimester screening must be distinguished from invasive diagnostics. Invasive means that an intervention is carried out. Invasive examinations are, for example, amniocentesis or chorionic villus sampling. In contrast to invasive methods, first trimester screening is non-invasive and does not involve any risk of miscarriage.

However, first trimester screening is not sufficient to exclude or diagnose a chromosomal disorder. The doctor only calculates the risk. Actual detection is only possible using invasive diagnostics.

Parents who opt for first trimester screening should be aware that the results can lead to difficult decisions. It is therefore important to have a detailed medical consultation beforehand.


Ultraschalluntersuchung einer Schwangeren
The first trimester screening examinations also include an ultrasound © TommyStockProject | AdobeStock

When is first trimester screening used?

The examination takes place at the end of the first trimester. The period in which the examinations are possible is limited to the 12th to 14th week of pregnancy.

This is mainly due to the special features of the nuchal fold transparency measurement. This can only provide relevant results during this period.

First trimester screening examinations

The examination includes a detailed ultrasound scan. The doctor uses this to measure and assess the nuchal fold transparency thickness and the unborn child's organs, among other things.

Around half of the serious malformations can already be detected at this point in the pregnancy. To assess the risk of pregnancy-induced high blood pressure, the blood flow in the uterus is assessed by ultrasound, among other things.

A blood sample is then taken from the pregnant woman. This allows various laboratory values to be determined. A blood pressure measurement can also provide information.

A few days later, the results are available, which the gynecologist discusses with the pregnant woman.

Interpretation of the results

The results of these tests are communicated as a risk value . The risks can range from 1 in 2 to 1 in several thousand.

If the risk of chromosomal abnormalities exceeds 1 in 150, the gynecologist will recommend further testing. This could be an amniocentesis, for example.

If the risk is just below this value, further ultrasound examinations or another blood test may be advisable.

The risk of pregnancy-induced high blood pressure is calculated in the same way. If the value is elevated, the gynecologist will discuss the daily intake of aspirin.

Nuchal edema in Down Syndrome Dr. W. Moroder
Nuchal fold transparency measurement

What does the nuchal fold transparency mean?

The nuchal fold transparency thickness is an important criterion in the risk assessment for

  • chromosomal disorders and
  • malformations.

In every fetus there is an accumulation of fluid at the nape of the neck. This is usually about 2 mm thick. A larger accumulation of fluid increases the risk of chromosomal abnormalities and malformations.

Other signs of trisomy 21 are

  • a shortened nasal bone and
  • abnormal blood flow to and within the heart.

It is important that these markers do not represent malformations. An increased risk of chromosomal abnormalities is also not the same as a developmental disorder. It is merely an indication that needs to be investigated more closely.

In fact, the majority of all children with an increased risk develop normally.

For example, with a risk of 1 in 20, only one fetus out of 20 fetuses in the same situation is affected, while the other 19 are normal. With the determined risk, however, a joint decision can be made as to whether and which further examinations could be useful.

What are the consequences of the first trimester screening result?

If there is an increased risk of chromosomal abnormalities, the parents-to-be must consider whether or not further tests are advisable.

These include, for example

  • a detailed ultrasound examination in the 21st week of pregnancy,
  • a cell-free DNA analysis from the mother's blood or
  • invasive diagnostics such as amniocentesis or a chorionic villus sampling.

The decisive factor is how the couple would deal with an abnormal result immediately. The parents must decide whether they would terminate the pregnancy in the event of an abnormal result. This requires appropriate specialist advice from the gynaecologist or psychosocial counselling services.

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Who pays for first trimester screening?

First trimester screening is not usually covered by statutory health insurance. It is a so-called IGeL service. Despite the obligation to self-pay, many pregnant women make use of the screening, even if there are actually no age-related risk factors.

Conclusion: Non-invasive, but not always conclusive

First trimester screening can be carried out to determine the risk of various disorders, malformations and diseases. It is a non-invasive method, which means that the examination is not associated with a risk of miscarriage. At the same time, however, "only" risks are determined. A definitive assessment is not possible using this method.

The risks identified can be used to optimize the further management of the pregnancy. If there is an increased risk of chromosomal disorders, for example, the possibility of invasive diagnostics or a cell-free DNA analysis can be considered.

It is currently being discussed whether cell-free DNA analysis should be offered as a health insurance benefit under certain circumstances. If there is an increased risk of pregnancy-induced high blood pressure, the daily intake of aspirin is being considered.

An increased risk is always a burden for the parents. They should therefore always discuss how to deal with the result before a first trimester screening.

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